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Mattsson, Niklas; Groot, Colin; Jansen, Willemijn J.; Landau, Susan M.; Villemagne, Victor L.; Engelborghs, Sebastiaan; Mintun, Mark M.; Lleo, Alberto; Molinuevo, Jose Luis; Jagust, William J.; Frisoni, Giovanni B.; Ivanoiu, Adrian; Chetelat, Gael; Oliveira, Catarina Resende de; Rodrigue, Karen M.; Kornhuber, Johannes; Wallin, Anders; Klimkowicz-Mrowiec, Aleksandra; Kandimalla, Ramesh; Popp, Julius; Aalten, Pauline P.; Aarsland, Dag; Alcolea, Daniel; Almdahl, Ina S.; Baldeiras, Ines; Buchem, Mark A. van; Cavedo, Enrica; Chen, Kewei; Cohen, Ann D.; Förster, Stefan; Fortea, Juan; Frederiksen, Kristian S.; Freund-Levi, Yvonne; Gill, Kiran Dip; Gkatzima, Olymbia; Grimmer, Timo; Hampel, Harald; Herukka, Sanna-Kaisa; Johannsen, Peter; Laere, Koen van; Leon, Mony J. de; Maier, Wolfgang; Marcusson, Jan; Meulenbroek, Olga; Mollergard, Hanne M.; Morris, John C.; Mroczko, Barbara; Nordlund, Arto; Prabhakar, Sudesh; Peters, Oliver; Rami, Lorena; Rodriguez-Rodriguez, Eloy; Roe, Catherine M.; Ruther, Eckart; Santana, Isabel; Schröder, Johannes; Seo, Sang W.; Soininen, Hilkka; Spiru, Luiza; Stomrud, Erik; Struyfs, Hanne; Teunissen, Charlotte E.; Verhey, Frans R. J.; Vos, Stephanie J. B.; Waalwijk van Doorn, Linda J. C. van; Waldemar, Gunhild; Wallin, Asa K.; Wiltfang, Jens; Vandenberghe, Rik; Brooks, David J.; Fladby, Tormod; Rowe, Christopher C.; Drzezga, Alexander; Verbeek, Marcel M.; Sarazin, Marie; Wolk, David A.; Fleisher, Adam S.; Klunk, William E.; Na, Duk L.; Sanchez-Juan, Pascual; Lee, Dong Young; Nordberg, Agneta; Tsolaki, Magda; Camus, Vincent; Rinne, Juha O.; Fagan, Anne M.; Zetterberg, Henrik; Blennow, Kaj; Rabinovici, Gil D.; Hansson, Oskar; Berckel, Bart N. M. van; Flier, Wiesje M. van der; Scheltens, Philip; Visser, Pieter Jelle; Ossenkoppele, Rik (2018): Prevalence of the apolipoprotein E epsilon 4 allele in amyloid beta positive subjects across the spectrum of Alzheimer's disease. In: Alzheimers & Dementia, Vol. 14, No. 7: pp. 913-924
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Abstract

Introduction: Apolipoprotein E (APOE) epsilon 4 is the major genetic risk factor for Alzheimer's disease (AD), but its prevalence is unclear because earlier studies did not require biomarker evidence of amyloid beta(A beta) pathology. Methods: We included 3451 A beta+ subjects (853 AD-type dementia, 1810 mild cognitive impairment, and 788 cognitively normal). Generalized estimating equation models were used to assess APOE epsilon 4 prevalence in relation to age, sex, education, and geographical location. Results: The APOE epsilon 4 prevalence was 66% in AD-type dementia, 64% in mild cognitive impairment, and 51% in cognitively normal, and it decreased with advancing age in A beta+ cognitively normal and A beta+ mild cognitive impairment (P <.05) but not in A beta+ AD dementia (P =.66). The prevalence was highest in Northern Europe but did not vary by sex or education. Discussion: The APOE E4 prevalence in AD was higher than that in previous studies, which did not require presence of A beta pathology. Furthermore, our results highlight disease heterogeneity related to age and geographical location.

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